Product Details

SNP ID
rs200945975
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:24920164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCTCTCGGTATCATTGTCTATA[C/T]CCAGCAGGATGCGGCCAGGCACGTC
Phenotype
MIM: 608293 MIM: 610238
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP17 PubMed Links

Gene Details

Gene
ARHGAP17
Gene Name
Rho GTPase activating protein 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001006634.2 2633 Missense Mutation GAT,GGT D871G NP_001006635.1
NM_018054.5 2633 Missense Mutation GAT,GGT D793G NP_060524.4
XM_011545873.2 2633 Missense Mutation GAT,GGT D903G XP_011544175.1
XM_011545874.2 2633 Missense Mutation GAT,GGT D902G XP_011544176.1
XM_011545875.2 2633 UTR 3 XP_011544177.1
XM_011545876.2 2633 UTR 3 XP_011544178.1
XM_011545877.2 2633 Missense Mutation GAT,GGT D826G XP_011544179.1
XM_011545878.2 2633 Missense Mutation GAT,GGT D825G XP_011544180.1
XM_017023390.1 2633 UTR 3 XP_016878879.1
Gene
SLC5A11
Gene Name
solute carrier family 5 member 11
There are no transcripts associated with this gene.

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